This substrain of 129, from the steel group of 129 substrains (129S), is a common source of embryonic stem cell lines used in development of targeted mutations. 129 inbred mice are known for the high incidence of spontaneous testicular teratomas,
Rudolf Jaenisch, Whitehead Institute, Massachusetts Institute of Technology
Historically, the 129 inbred mice are known for the high incidence of spontaneous testicular teratomas, though the incidence differs between substrains.(1-3% in 129 parental substrains; 30% in teratoma substrains.) More recently, 129 mice are widely used in the production of targeted mutations due to the availability of multiple embryonic stem cell lines derived from them. There is major genetic variation within the 129 "family", which has led to an update of the nomenclature and a division of the substrains into three major groups: parental substrains (129P), steel substrains (129S) and "teratoma" substrains (129T). Investigators using 129 substrains for targeted mutagenesis should be careful in the selection of the appropriate 129 substrain to match the embryonic stem cell line. For a complete history of the numerous 129 substrains, see Simpson, et al., 1997.
129S4/SvJae has been used to develop multiple embryonic stem cell lines including: J1, LW1, and RF8.
The 129/Sv (Steel) substrain was developed by Dr. Leroy Stevens of The Jackson Laboratory in the 1960s. In 1974 Dr. Rudolf Jaenisch of the Whitehead Institute obtained a colony of 129/Sv (later 129S4/SvJae). It was maintained in Dr. Jaenisch's laboratory via sibling mating for more than 20 years. The strain was donated to The Jackson Laboratory in 2009.
|Allele Synonym(s)||Disc1129S6; Disc1delta6|
|Gene Symbol and Name||Disc1, disrupted in schizophrenia 1|
|Strain of Origin||various|
|General Note||This deletion appears in multiple strains of the 129 superfamily, 101/RI, BTBR T+ tf/J, LP/J, FVB/NJ, SJL/J, SWR/J and DDY/JclSidSeyFrkJ (J:111837, J:195189).|
|Molecular Note||A 25 bp deletion in exon 6 causes a frame shift in the reading frame, resulting in 13 novel amino acids and a premature stop codon in exon 7.|
When using the 129S4/SvJaeJ mouse strain in a publication, please include JAX stock #009104 in your Materials and Methods section.